Reduced cytochrome P-450 (CYP) 2D6 activity and Plasmodium vivax malaria risk in Amazonians: A retrospective, population-based cohort study

PLoS Negl Trop Dis. 2026 Mar 27;20(3):e0014160. doi: 10.1371/journal.pntd.0014160. eCollection 2026 Mar.

Abstract

Background: Primaquine (PQ) is the only widely available drug that eliminates latent hypnozoites, thereby preventing relapses of Plasmodium vivax malaria. Because PQ biotransformation mediated by the cytochrome P-450 (CYP) isoenzyme CYP2D6 is required for therapeutic activity, patients with reduced CYP2D6 activity can experience relapse despite treatment. The minimum level of CYP2D6 activity for adequate anti-relapse PQ efficacy is unknown.

Methods and findings: We conducted a retrospective, population-based cohort study in the main malaria hotspot of Brazil. We fitted time-to-event data from cohort participants who experienced vivax malaria, using Cox proportional hazards models, to explore how genotype-determined CYP2D6 activity, expressed as activity scores (AS), modulates the risk of P. vivax recurrence within 6 months after treatment with chloroquine and PQ (total dose, 3.5 mg/kg). We analyzed community-wide P. vivax malaria incidence data, using a multivariable negative binomial regression model, to quantify the impact of reduced CYP2D6 activity on the overall risk of vivax malaria, whether from relapses or new infections. Among 466 P. vivax-infected cohort participants, those with null/low CYP2D6 activity (AS ≤ 0.25), but not participants with intermediate CYP2D6 activity (AS from 0.5 to 1.0), had twice the risk of recurrence compared to an AS > 1.0 (hazard ratio = 2.22, P = 0.004). However, vivax malaria incidence did not differ significantly across CYP2D6 activity levels during 5 years of follow-up of 997 Amazonians exposed to intense transmission (mean, 26.6 vivax malaria cases/100 person-years). These findings suggest that the excess of relapses among people with severely reduced CYP2D6 activity adds relatively little to the overall burden of vivax malaria episodes.

Conclusion: Amazonians with an AS ≤ 0.25, but not necessarily those with intermediate CYP2D6 activity, have a greater risk of recurrence after a PQ-treated P. vivax infection and require alternative relapse suppression regimens for the radical cure of vivax malaria.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Antimalarials / therapeutic use
  • Brazil / epidemiology
  • Child
  • Child, Preschool
  • Chloroquine / therapeutic use
  • Cohort Studies
  • Cytochrome P-450 CYP2D6* / genetics
  • Cytochrome P-450 CYP2D6* / metabolism
  • Female
  • Genotype
  • Humans
  • Malaria, Vivax* / drug therapy
  • Malaria, Vivax* / epidemiology
  • Malaria, Vivax* / parasitology
  • Male
  • Middle Aged
  • Plasmodium vivax / drug effects
  • Primaquine / therapeutic use
  • Recurrence
  • Retrospective Studies
  • Young Adult

Substances

  • Cytochrome P-450 CYP2D6
  • Primaquine
  • Antimalarials
  • Chloroquine